R153Q (p.Arg153Gln) variant of SOS2 (Son of sevenless homolog 2)
R153Q (p.Arg153Gln) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R153Q (p.Arg153Gln) variant details
- p.Arg153Gln
- rs779591050
- ClinGen CA7177522
- ClinVar RCV001302584
- ExAC rs779591050
- Likely benign
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.51
- MetaLR 0.40
- MetaSVM -0.16
- CADD 28.30
- PolyPhen-2 0.72
- SIFT 0.17
- ClinVar: Likely benign (Noonan syndrome 9)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)